A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolaemia: the Sino-Roman Study

Claudia Stefanutti, Jing Pang, Serafina Di Giacomo, Xue Wu, Xumin Wang, Claudia Morozzi, Gerald F. Watts, Jie Lin

Research output: Contribution to journalArticle

Abstract

Background Homozygous familial hypercholesterolaemia (hoFH) is a rare inherited disorder characterised by extreme elevation of low-density lipoprotein (LDL)-cholesterol, accelerated coronary artery disease (CAD) and premature death. Aggressive LDL-cholesterol lowering therapies are important for survival but these are not available worldwide. Objective To compare and contrast cardiovascular outcomes and mortality of hoFH patients in two countries with disparate use of lipoprotein apheresis (LA) and modern therapies for lowering LDL-cholesterol. Methods A retrospective study was undertaken comparing cardiovascular disease (CVD)-free survival and mortality in 44 hoFH patients who were treated statins but not LA, from a centre in Beijing, China, and 18 hoFH patients who were treated with LA and novel therapies from an early age, from a centre in Rome, Italy. Results CVD-free survival and survival was significantly reduced in the Chinese patients compared with the Italian patients after 30 years of follow-up (log-rank p<0.01). In a pooled analysis, cardiovascular survival was significantly increased with earlier age at treatment, longer duration of treatment and lower on-treatment LDL-cholesterol concentrations (p<0.05). Additionally, the probability of a CVD event and death were increased in patients that carried a null mutation in the LDLR or had elevated lipoprotein(a). Conclusions We show that CAD outcomes in patients with hoFH can be significantly improved with earlier and potent LDL-cholesterol lowering with pharmacotherapies and LA. This has major implications for countries, such as China, where the models of care for hoFH remains underdeveloped.
Original languageEnglish
Pages (from-to)608-617
JournalJournal of Clinical Lipidology
Volume13
Issue number4
Early online date12 May 2019
DOIs
Publication statusPublished - Jul 2019

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Hyperlipoproteinemia Type II
Blood Component Removal
LDL Cholesterol
Survival
Lipoproteins
Coronary Artery Disease
China
Cardiovascular Diseases
Therapeutics
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Lipoprotein(a)
Premature Mortality
Mortality
Survival Analysis
Italy
Disease-Free Survival
Retrospective Studies
Drug Therapy
Mutation

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Stefanutti, Claudia ; Pang, Jing ; Di Giacomo, Serafina ; Wu, Xue ; Wang, Xumin ; Morozzi, Claudia ; Watts, Gerald F. ; Lin, Jie. / A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolaemia : the Sino-Roman Study. In: Journal of Clinical Lipidology. 2019 ; Vol. 13, No. 4. pp. 608-617.
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abstract = "Background Homozygous familial hypercholesterolaemia (hoFH) is a rare inherited disorder characterised by extreme elevation of low-density lipoprotein (LDL)-cholesterol, accelerated coronary artery disease (CAD) and premature death. Aggressive LDL-cholesterol lowering therapies are important for survival but these are not available worldwide. Objective To compare and contrast cardiovascular outcomes and mortality of hoFH patients in two countries with disparate use of lipoprotein apheresis (LA) and modern therapies for lowering LDL-cholesterol. Methods A retrospective study was undertaken comparing cardiovascular disease (CVD)-free survival and mortality in 44 hoFH patients who were treated statins but not LA, from a centre in Beijing, China, and 18 hoFH patients who were treated with LA and novel therapies from an early age, from a centre in Rome, Italy. Results CVD-free survival and survival was significantly reduced in the Chinese patients compared with the Italian patients after 30 years of follow-up (log-rank p<0.01). In a pooled analysis, cardiovascular survival was significantly increased with earlier age at treatment, longer duration of treatment and lower on-treatment LDL-cholesterol concentrations (p<0.05). Additionally, the probability of a CVD event and death were increased in patients that carried a null mutation in the LDLR or had elevated lipoprotein(a). Conclusions We show that CAD outcomes in patients with hoFH can be significantly improved with earlier and potent LDL-cholesterol lowering with pharmacotherapies and LA. This has major implications for countries, such as China, where the models of care for hoFH remains underdeveloped.",
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A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolaemia : the Sino-Roman Study. / Stefanutti, Claudia; Pang, Jing; Di Giacomo, Serafina; Wu, Xue; Wang, Xumin; Morozzi, Claudia; Watts, Gerald F.; Lin, Jie.

In: Journal of Clinical Lipidology, Vol. 13, No. 4, 07.2019, p. 608-617.

Research output: Contribution to journalArticle

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T1 - A cross-national investigation of cardiovascular survival in homozygous familial hypercholesterolaemia

T2 - the Sino-Roman Study

AU - Stefanutti, Claudia

AU - Pang, Jing

AU - Di Giacomo, Serafina

AU - Wu, Xue

AU - Wang, Xumin

AU - Morozzi, Claudia

AU - Watts, Gerald F.

AU - Lin, Jie

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N2 - Background Homozygous familial hypercholesterolaemia (hoFH) is a rare inherited disorder characterised by extreme elevation of low-density lipoprotein (LDL)-cholesterol, accelerated coronary artery disease (CAD) and premature death. Aggressive LDL-cholesterol lowering therapies are important for survival but these are not available worldwide. Objective To compare and contrast cardiovascular outcomes and mortality of hoFH patients in two countries with disparate use of lipoprotein apheresis (LA) and modern therapies for lowering LDL-cholesterol. Methods A retrospective study was undertaken comparing cardiovascular disease (CVD)-free survival and mortality in 44 hoFH patients who were treated statins but not LA, from a centre in Beijing, China, and 18 hoFH patients who were treated with LA and novel therapies from an early age, from a centre in Rome, Italy. Results CVD-free survival and survival was significantly reduced in the Chinese patients compared with the Italian patients after 30 years of follow-up (log-rank p<0.01). In a pooled analysis, cardiovascular survival was significantly increased with earlier age at treatment, longer duration of treatment and lower on-treatment LDL-cholesterol concentrations (p<0.05). Additionally, the probability of a CVD event and death were increased in patients that carried a null mutation in the LDLR or had elevated lipoprotein(a). Conclusions We show that CAD outcomes in patients with hoFH can be significantly improved with earlier and potent LDL-cholesterol lowering with pharmacotherapies and LA. This has major implications for countries, such as China, where the models of care for hoFH remains underdeveloped.

AB - Background Homozygous familial hypercholesterolaemia (hoFH) is a rare inherited disorder characterised by extreme elevation of low-density lipoprotein (LDL)-cholesterol, accelerated coronary artery disease (CAD) and premature death. Aggressive LDL-cholesterol lowering therapies are important for survival but these are not available worldwide. Objective To compare and contrast cardiovascular outcomes and mortality of hoFH patients in two countries with disparate use of lipoprotein apheresis (LA) and modern therapies for lowering LDL-cholesterol. Methods A retrospective study was undertaken comparing cardiovascular disease (CVD)-free survival and mortality in 44 hoFH patients who were treated statins but not LA, from a centre in Beijing, China, and 18 hoFH patients who were treated with LA and novel therapies from an early age, from a centre in Rome, Italy. Results CVD-free survival and survival was significantly reduced in the Chinese patients compared with the Italian patients after 30 years of follow-up (log-rank p<0.01). In a pooled analysis, cardiovascular survival was significantly increased with earlier age at treatment, longer duration of treatment and lower on-treatment LDL-cholesterol concentrations (p<0.05). Additionally, the probability of a CVD event and death were increased in patients that carried a null mutation in the LDLR or had elevated lipoprotein(a). Conclusions We show that CAD outcomes in patients with hoFH can be significantly improved with earlier and potent LDL-cholesterol lowering with pharmacotherapies and LA. This has major implications for countries, such as China, where the models of care for hoFH remains underdeveloped.

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